Canonical Allele Identifier: CA603482593

Gene: KCNA5

Linked Data

• dbSNP Id: rs1166971033
• gnomAD v2: 12-5154786-T-TG
• gnomAD v4: 12-5045620-T-TG
• MyVariant Identifiers: chr12:g.5154786_5154787insG (hg19) ; chr12:g.5045620_5045621insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045625dup , CM000674.2:g.5045625dup	GRCh38
NC_000012.11:g.5154791dup , CM000674.1:g.5154791dup	GRCh37
NC_000012.10:g.5025052dup	NCBI36
NG_012198.1:g.6707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1478dup MANE Select	ENSP00000252321.3:p.Lys494GlnfsTer?
ENST00000252321.4:c.1478dup	ENSP00000252321.3:p.Lys494GlnfsTer?
NM_002234.3:c.1478dup	NP_002225.2:p.Lys494GlnfsTer?
NM_002234.4:c.1478dup MANE Select	NP_002225.2:p.Lys494GlnfsTer?